Literature DB >> 20371896

Supernumerary marker chromosome in a child with microcephaly and mental retardation.

Frenny Sheth1, Joris Andrieux, Jayesh Sheth.   

Abstract

A de novo supernumerary marker chromosome (SMC) was identified in a 13-month-old girl who presented with microcephaly and mild mental retardation. On further characterization by oligo-nucleotide array-comparative genomic hybridization [array-CGH], the SMC was confirmed to be 18p.

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Year:  2010        PMID： 20371896     DOI： 10.1007/s13312-010-0038-x

Source DB:  PubMed          Journal:  Indian Pediatr        ISSN： 0019-6061            Impact factor:   1.411


  4 in total

1.  Prenatal genetic diagnosis of tetrasomy 18p from maternal trisomy 18p: a case report.

Authors:  Can Peng; SiYuan LinPeng; Xiufen Bu; XuanYu Jiang; LanPing Hu; Jun He; ShiHao Zhou
Journal:  Mol Cytogenet       Date:  2022-06-27       Impact factor: 1.904

2.  Azoospermia and trisomy 18p syndrome: a fortuitous association? A patient report and a review of the literature.

Authors:  Guillaume Jedraszak; Henri Copin; Manuel Demailly; Catherine Quibel; Thierry Leclerc; Marlène Gallet; Moncef Benkhalifa; Aline Receveur
Journal:  Mol Cytogenet       Date:  2015-06-04       Impact factor: 2.009

3.  Molecular characterization of a complex small supernumerary marker chromosome derived from chromosome 18p: an addition to the literature.

Authors:  Eleonora Marchina; Michela Forti; Mariella Tonelli; Stefania Maccarini; Francesca Malvestiti; Chiara Piantoni; Elena Filippini; Elisa Fazzi; Giuseppe Borsani
Journal:  Mol Cytogenet       Date:  2021-01-20       Impact factor: 2.009

4.  Three supernumerary marker chromosomes in a patient with developmental delay, mental retardation, and dysmorphic features.

Authors:  Jie Hu; Suneeta Madan-Khetarpal; Alvaro H Serrano Russi; Sally Kochmar; Stephanie J Deward; Malini Sathanoori; Urvashi Surti
Journal:  Genet Res Int       Date:  2011-07-17
  4 in total

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